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The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
Exp Dermatol 2009; 18(2):167-74ED

Abstract

In this study, we assessed the role of melanocortin-1 receptor (MC1R) and agouti signalling protein (ASIP) polymorphisms in cutaneous melanoma and basal cell carcinoma (BCC) development in a Polish population. We enrolled 108 patients with skin malignant melanoma (MM) and 102 patients with BCC. The control group consisted of 93 non-red haired patients, without history of skin cancers and 30 healthy individuals with red hair colour (RHC) phenotype. The complete MC1R exon was sequenced and the A8818G polymorphism of the ASIP gene was analysed using the SnaPshot protocol. Selected MC1R mutations were additionally examined using a convenient minisequencing assay. The study confirmed the important role of MC1R R variants in determining physiological variation in hair and skin colour. Our data show that individuals with R mutations had a 3.7-fold increase in melanoma risk and a 3.3-fold increase in BCC risk. Especially, variant R151C significantly increased the risk of both MM and BCC. The studied ASIP polymorphism was found not to be associated with MM or BCC. Stratified analysis showed that the association between MC1R mutations and the risk of MM and BCC was not significantly influenced by subjects' pigmentation characteristics or the 8818G ASIP variant. Further research is necessary, especially involving analysis of interactions between variation in MC1R and other genes, to find out if analysis of MC1R polymorphisms could be of any importance for skin cancer prevention.

Authors+Show Affiliations

Department of Dermatology, Collegium Medicum of the Jagiellonian University, Cracow, Poland. u.brudnik@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18637131

Citation

Brudnik, Urszula, et al. "The Contribution of Melanocortin 1 Receptor Gene Polymorphisms and the Agouti Signalling Protein Gene 8818A>G Polymorphism to Cutaneous Melanoma and Basal Cell Carcinoma in a Polish Population." Experimental Dermatology, vol. 18, no. 2, 2009, pp. 167-74.
Brudnik U, Branicki W, Wojas-Pelc A, et al. The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Exp Dermatol. 2009;18(2):167-74.
Brudnik, U., Branicki, W., Wojas-Pelc, A., & Kanas, P. (2009). The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. Experimental Dermatology, 18(2), pp. 167-74. doi:10.1111/j.1600-0625.2008.00760.x.
Brudnik U, et al. The Contribution of Melanocortin 1 Receptor Gene Polymorphisms and the Agouti Signalling Protein Gene 8818A>G Polymorphism to Cutaneous Melanoma and Basal Cell Carcinoma in a Polish Population. Exp Dermatol. 2009;18(2):167-74. PubMed PMID: 18637131.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population. AU - Brudnik,Urszula, AU - Branicki,Wojciech, AU - Wojas-Pelc,Anna, AU - Kanas,Piotr, Y1 - 2008/07/07/ PY - 2008/7/19/pubmed PY - 2009/4/11/medline PY - 2008/7/19/entrez SP - 167 EP - 74 JF - Experimental dermatology JO - Exp. Dermatol. VL - 18 IS - 2 N2 - In this study, we assessed the role of melanocortin-1 receptor (MC1R) and agouti signalling protein (ASIP) polymorphisms in cutaneous melanoma and basal cell carcinoma (BCC) development in a Polish population. We enrolled 108 patients with skin malignant melanoma (MM) and 102 patients with BCC. The control group consisted of 93 non-red haired patients, without history of skin cancers and 30 healthy individuals with red hair colour (RHC) phenotype. The complete MC1R exon was sequenced and the A8818G polymorphism of the ASIP gene was analysed using the SnaPshot protocol. Selected MC1R mutations were additionally examined using a convenient minisequencing assay. The study confirmed the important role of MC1R R variants in determining physiological variation in hair and skin colour. Our data show that individuals with R mutations had a 3.7-fold increase in melanoma risk and a 3.3-fold increase in BCC risk. Especially, variant R151C significantly increased the risk of both MM and BCC. The studied ASIP polymorphism was found not to be associated with MM or BCC. Stratified analysis showed that the association between MC1R mutations and the risk of MM and BCC was not significantly influenced by subjects' pigmentation characteristics or the 8818G ASIP variant. Further research is necessary, especially involving analysis of interactions between variation in MC1R and other genes, to find out if analysis of MC1R polymorphisms could be of any importance for skin cancer prevention. SN - 1600-0625 UR - https://www.unboundmedicine.com/medline/citation/18637131/The_contribution_of_melanocortin_1_receptor_gene_polymorphisms_and_the_agouti_signalling_protein_gene_8818A>G_polymorphism_to_cutaneous_melanoma_and_basal_cell_carcinoma_in_a_Polish_population_ L2 - https://doi.org/10.1111/j.1600-0625.2008.00760.x DB - PRIME DP - Unbound Medicine ER -